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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
BACKGROUND: To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES. METHODS: We performed comprehensive mole...
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| Publicat a: | BMC Med Genomics |
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| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7945660/ https://ncbi.nlm.nih.gov/pubmed/33691693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00874-6 |
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